ClinVar Miner

List of variants reported as likely benign for Developmental and epileptic encephalopathy, 1; Autosomal dominant nonsyndromic hearing loss 65; Caused by mutation in the TBC1 domain family, member 24 by Labcorp Genetics (formerly Invitae), Labcorp

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 236
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HGVS dbSNP gnomAD frequency
NM_001199107.2(TBC1D24):c.1196C>T (p.Thr399Met) rs61731477 0.00306
NM_001199107.2(TBC1D24):c.785C>T (p.Ser262Leu) rs201060500 0.00216
NM_001199107.2(TBC1D24):c.1327G>A (p.Glu443Lys) rs141399869 0.00163
NM_001199107.2(TBC1D24):c.493G>A (p.Gly165Ser) rs200926225 0.00160
NM_001199107.2(TBC1D24):c.641G>A (p.Arg214His) rs200324356 0.00068
NM_001199107.2(TBC1D24):c.1143-15G>A rs371213803 0.00035
NM_001199107.2(TBC1D24):c.1570C>T (p.Arg524Trp) rs78644690 0.00035
NM_001199107.2(TBC1D24):c.179G>A (p.Arg60Gln) rs200226466 0.00031
NM_001199107.2(TBC1D24):c.1038C>T (p.Ser346=) rs377697825 0.00026
NM_001199107.2(TBC1D24):c.22T>C (p.Cys8Arg) rs77585883 0.00024
NM_001199107.2(TBC1D24):c.1411G>A (p.Ala471Thr) rs377448015 0.00021
NM_001199107.2(TBC1D24):c.1503G>A (p.Gly501=) rs368735897 0.00018
NM_001199107.2(TBC1D24):c.492C>G (p.Pro164=) rs369172908 0.00016
NM_001199107.2(TBC1D24):c.1026G>A (p.Ser342=) rs370244846 0.00012
NM_001199107.2(TBC1D24):c.1620C>T (p.Ser540=) rs781723084 0.00011
NM_001199107.2(TBC1D24):c.447C>T (p.Ala149=) rs755794991 0.00011
NM_001199107.2(TBC1D24):c.1302+14A>C rs528462687 0.00009
NM_001199107.2(TBC1D24):c.1642G>A (p.Val548Met) rs201649140 0.00009
NM_001199107.2(TBC1D24):c.1143-5G>A rs754105574 0.00008
NM_001199107.2(TBC1D24):c.1425C>T (p.Pro475=) rs370869383 0.00008
NM_001199107.2(TBC1D24):c.1207-6C>G rs749626631 0.00007
NM_001199107.2(TBC1D24):c.178C>T (p.Arg60Trp) rs373914077 0.00007
NM_001199107.2(TBC1D24):c.546G>A (p.Thr182=) rs182825122 0.00007
NM_001199107.2(TBC1D24):c.243C>T (p.Ile81=) rs745405784 0.00006
NM_001199107.2(TBC1D24):c.1125C>T (p.His375=) rs749163517 0.00005
NM_001199107.2(TBC1D24):c.1392C>T (p.Thr464=) rs199865687 0.00005
NM_001199107.2(TBC1D24):c.1525+17G>A rs537260143 0.00005
NM_001199107.2(TBC1D24):c.768C>T (p.Ala256=) rs778001053 0.00005
NM_001199107.2(TBC1D24):c.1142+14G>A rs745904419 0.00004
NM_001199107.2(TBC1D24):c.1341C>T (p.Ile447=) rs372317366 0.00004
NM_001199107.2(TBC1D24):c.330C>T (p.Gly110=) rs779117497 0.00004
NM_001199107.2(TBC1D24):c.48C>T (p.Asp16=) rs555276293 0.00004
NM_001199107.2(TBC1D24):c.534G>A (p.Ser178=) rs144714321 0.00004
NM_001199107.2(TBC1D24):c.606G>A (p.Ser202=) rs61731478 0.00004
NM_001199107.2(TBC1D24):c.759G>A (p.Lys253=) rs190306450 0.00004
NM_001199107.2(TBC1D24):c.828C>T (p.Ile276=) rs764252146 0.00004
NM_001199107.2(TBC1D24):c.864A>G (p.Lys288=) rs777237669 0.00004
NM_001199107.2(TBC1D24):c.983+16T>A rs1355546058 0.00004
NM_001199107.2(TBC1D24):c.984-12C>T rs762896980 0.00004
NM_001199107.2(TBC1D24):c.1410C>T (p.Ser470=) rs553497128 0.00003
NM_001199107.2(TBC1D24):c.1482C>G (p.Thr494=) rs373862230 0.00003
NM_001199107.2(TBC1D24):c.1526-13G>A rs766052989 0.00003
NM_001199107.2(TBC1D24):c.210C>T (p.Asp70=) rs373872223 0.00003
NM_001199107.2(TBC1D24):c.225C>T (p.Ser75=) rs201220026 0.00003
NM_001199107.2(TBC1D24):c.279C>T (p.Pro93=) rs1021608042 0.00003
NM_001199107.2(TBC1D24):c.344G>A (p.Arg115His) rs201174513 0.00003
NM_001199107.2(TBC1D24):c.519C>T (p.Phe173=) rs763534843 0.00003
NM_001199107.2(TBC1D24):c.786G>A (p.Ser262=) rs371064617 0.00003
NM_001199107.2(TBC1D24):c.813G>A (p.Thr271=) rs527719763 0.00003
NM_001199107.2(TBC1D24):c.90T>C (p.Thr30=) rs575173753 0.00003
NM_001199107.2(TBC1D24):c.951C>T (p.Thr317=) rs766745103 0.00003
NM_001199107.2(TBC1D24):c.965+10C>T rs756687194 0.00003
NM_001199107.2(TBC1D24):c.984-5C>G rs535021783 0.00003
NM_001199107.2(TBC1D24):c.1015A>G (p.Asn339Asp) rs574768683 0.00002
NM_001199107.2(TBC1D24):c.102A>G (p.Glu34=) rs1178639246 0.00002
NM_001199107.2(TBC1D24):c.1071C>T (p.Val357=) rs760897479 0.00002
NM_001199107.2(TBC1D24):c.1281C>T (p.Thr427=) rs200089341 0.00002
NM_001199107.2(TBC1D24):c.1350C>T (p.Pro450=) rs375320196 0.00002
NM_001199107.2(TBC1D24):c.1467C>T (p.Asn489=) rs779963634 0.00002
NM_001199107.2(TBC1D24):c.1525+16C>T rs754724498 0.00002
NM_001199107.2(TBC1D24):c.198G>A (p.Thr66=) rs373088306 0.00002
NM_001199107.2(TBC1D24):c.213C>T (p.Ala71=) rs778212970 0.00002
NM_001199107.2(TBC1D24):c.231C>T (p.Ile77=) rs375578380 0.00002
NM_001199107.2(TBC1D24):c.273G>A (p.Pro91=) rs762804146 0.00002
NM_001199107.2(TBC1D24):c.297G>A (p.Thr99=) rs767766165 0.00002
NM_001199107.2(TBC1D24):c.333G>A (p.Glu111=) rs749237671 0.00002
NM_001199107.2(TBC1D24):c.405G>A (p.Pro135=) rs778663250 0.00002
NM_001199107.2(TBC1D24):c.855G>T (p.Leu285=) rs769201984 0.00002
NM_001199107.2(TBC1D24):c.870C>T (p.Phe290=) rs770453630 0.00002
NM_001199107.2(TBC1D24):c.87C>T (p.Cys29=) rs768933496 0.00002
NM_001199107.2(TBC1D24):c.1020C>T (p.Phe340=) rs200711801 0.00001
NM_001199107.2(TBC1D24):c.1137G>A (p.Leu379=) rs1243475474 0.00001
NM_001199107.2(TBC1D24):c.1142+7C>A rs1364280797 0.00001
NM_001199107.2(TBC1D24):c.117G>A (p.Ala39=) rs537494711 0.00001
NM_001199107.2(TBC1D24):c.1197G>A (p.Thr399=) rs568288551 0.00001
NM_001199107.2(TBC1D24):c.1206+13C>T rs376162122 0.00001
NM_001199107.2(TBC1D24):c.1206+7A>G rs2065771868 0.00001
NM_001199107.2(TBC1D24):c.1207-11C>T rs778247648 0.00001
NM_001199107.2(TBC1D24):c.1207-18C>T rs372876116 0.00001
NM_001199107.2(TBC1D24):c.1209G>A (p.Val403=) rs1165918189 0.00001
NM_001199107.2(TBC1D24):c.1260C>A (p.Gly420=) rs761432102 0.00001
NM_001199107.2(TBC1D24):c.1302+17G>A rs1173044946 0.00001
NM_001199107.2(TBC1D24):c.1302+9G>A rs1197608274 0.00001
NM_001199107.2(TBC1D24):c.1303-14C>T rs1211054848 0.00001
NM_001199107.2(TBC1D24):c.1353G>A (p.Glu451=) rs1231827471 0.00001
NM_001199107.2(TBC1D24):c.1383C>T (p.Ala461=) rs552951046 0.00001
NM_001199107.2(TBC1D24):c.1437C>T (p.Leu479=) rs1406537159 0.00001
NM_001199107.2(TBC1D24):c.1446C>T (p.Phe482=) rs2065782529 0.00001
NM_001199107.2(TBC1D24):c.1521C>T (p.Ile507=) rs1269959991 0.00001
NM_001199107.2(TBC1D24):c.1525+13A>C rs751260694 0.00001
NM_001199107.2(TBC1D24):c.1525+7G>A rs1041091510 0.00001
NM_001199107.2(TBC1D24):c.1536C>T (p.Gly512=) rs757328220 0.00001
NM_001199107.2(TBC1D24):c.1545G>A (p.Ala515=) rs747350771 0.00001
NM_001199107.2(TBC1D24):c.1554C>T (p.Ile518=) rs369958726 0.00001
NM_001199107.2(TBC1D24):c.1581A>G (p.Thr527=) rs1217553094 0.00001
NM_001199107.2(TBC1D24):c.1590C>T (p.Cys530=) rs1060502501 0.00001
NM_001199107.2(TBC1D24):c.27C>T (p.Phe9=) rs759193465 0.00001
NM_001199107.2(TBC1D24):c.285C>T (p.Phe95=) rs774354974 0.00001
NM_001199107.2(TBC1D24):c.312C>T (p.Tyr104=) rs754301066 0.00001
NM_001199107.2(TBC1D24):c.378C>T (p.Pro126=) rs765624033 0.00001
NM_001199107.2(TBC1D24):c.408C>T (p.Ala136=) rs3810796 0.00001
NM_001199107.2(TBC1D24):c.414G>A (p.Val138=) rs1015174831 0.00001
NM_001199107.2(TBC1D24):c.420G>A (p.Leu140=) rs1400165650 0.00001
NM_001199107.2(TBC1D24):c.495C>G (p.Gly165=) rs776661155 0.00001
NM_001199107.2(TBC1D24):c.630G>A (p.Ala210=) rs776459372 0.00001
NM_001199107.2(TBC1D24):c.648G>C (p.Leu216=) rs571126287 0.00001
NM_001199107.2(TBC1D24):c.64C>T (p.Leu22=) rs746087403 0.00001
NM_001199107.2(TBC1D24):c.651T>C (p.Phe217=) rs750100459 0.00001
NM_001199107.2(TBC1D24):c.690C>T (p.Asp230=) rs749531792 0.00001
NM_001199107.2(TBC1D24):c.726C>T (p.Arg242=) rs772786813 0.00001
NM_001199107.2(TBC1D24):c.732G>A (p.Ala244=) rs554758752 0.00001
NM_001199107.2(TBC1D24):c.94C>T (p.Leu32=) rs1246835125 0.00001
NM_001199107.2(TBC1D24):c.965+7C>T rs1244113744 0.00001
NM_001199107.2(TBC1D24):c.965+8G>A rs372247100 0.00001
NM_001199107.2(TBC1D24):c.969G>A (p.Val323=) rs1054785696 0.00001
NM_001199107.2(TBC1D24):c.972A>C (p.Ser324=) rs886043654 0.00001
NM_001199107.2(TBC1D24):c.983+15G>A rs1172969040 0.00001
NM_001199107.2(TBC1D24):c.983+7C>T rs778459711 0.00001
NM_001199107.2(TBC1D24):c.1002C>G (p.Ala334=) rs184389316
NM_001199107.2(TBC1D24):c.1008T>C (p.His336=) rs961839071
NM_001199107.2(TBC1D24):c.1026G>C (p.Ser342=) rs370244846
NM_001199107.2(TBC1D24):c.1074C>G (p.Pro358=)
NM_001199107.2(TBC1D24):c.1086C>T (p.Ala362=)
NM_001199107.2(TBC1D24):c.1095G>A (p.Gln365=) rs2141874394
NM_001199107.2(TBC1D24):c.1110C>T (p.Phe370=) rs1555501404
NM_001199107.2(TBC1D24):c.1116C>A (p.Ser372=)
NM_001199107.2(TBC1D24):c.1116C>T (p.Ser372=)
NM_001199107.2(TBC1D24):c.1119G>T (p.Leu373=) rs2141874428
NM_001199107.2(TBC1D24):c.1143-5G>T rs754105574
NM_001199107.2(TBC1D24):c.1143-9C>G
NM_001199107.2(TBC1D24):c.1167T>C (p.His389=) rs2065771222
NM_001199107.2(TBC1D24):c.1180T>C (p.Leu394=)
NM_001199107.2(TBC1D24):c.1206+11G>C
NM_001199107.2(TBC1D24):c.1206+14C>T
NM_001199107.2(TBC1D24):c.1206+20CCAGGGCTGGCTCTGATGGGCT[4] rs777798547
NM_001199107.2(TBC1D24):c.1207-20C>A rs757347903
NM_001199107.2(TBC1D24):c.1207-20C>T
NM_001199107.2(TBC1D24):c.1207-6C>T rs749626631
NM_001199107.2(TBC1D24):c.1207-7C>T rs1348586468
NM_001199107.2(TBC1D24):c.1209G>T (p.Val403=)
NM_001199107.2(TBC1D24):c.1221C>T (p.Tyr407=) rs2065775888
NM_001199107.2(TBC1D24):c.1269C>T (p.Gly423=)
NM_001199107.2(TBC1D24):c.1278G>A (p.Gly426=) rs377748101
NM_001199107.2(TBC1D24):c.1302+19C>T
NM_001199107.2(TBC1D24):c.1303-18A>G rs2141876962
NM_001199107.2(TBC1D24):c.1303-5C>G rs1468286638
NM_001199107.2(TBC1D24):c.1303-7A>G rs2141876976
NM_001199107.2(TBC1D24):c.1317G>A (p.Val439=)
NM_001199107.2(TBC1D24):c.1335G>C (p.Val445=)
NM_001199107.2(TBC1D24):c.1341C>A (p.Ile447=) rs372317366
NM_001199107.2(TBC1D24):c.1347C>T (p.His449=)
NM_001199107.2(TBC1D24):c.1367C>T (p.Pro456Leu) rs200641000
NM_001199107.2(TBC1D24):c.1371C>G (p.Pro457=)
NM_001199107.2(TBC1D24):c.1374G>A (p.Leu458=)
NM_001199107.2(TBC1D24):c.1407C>T (p.His469=) rs2141877201
NM_001199107.2(TBC1D24):c.1410C>A (p.Ser470=) rs553497128
NM_001199107.2(TBC1D24):c.1410C>G (p.Ser470=) rs553497128
NM_001199107.2(TBC1D24):c.1413C>T (p.Ala471=) rs761742075
NM_001199107.2(TBC1D24):c.144C>T (p.His48=) rs765396824
NM_001199107.2(TBC1D24):c.1482C>T (p.Thr494=) rs373862230
NM_001199107.2(TBC1D24):c.1500G>C (p.Ala500=) rs201059992
NM_001199107.2(TBC1D24):c.1506C>T (p.Gly502=) rs1302904331
NM_001199107.2(TBC1D24):c.1525+10A>G
NM_001199107.2(TBC1D24):c.1539C>T (p.Gly513=) rs1466557404
NM_001199107.2(TBC1D24):c.1548C>T (p.Leu516=) rs1555501692
NM_001199107.2(TBC1D24):c.1608G>A (p.Gln536=)
NM_001199107.2(TBC1D24):c.1620C>G (p.Ser540=)
NM_001199107.2(TBC1D24):c.1623G>A (p.Glu541=) rs1596973590
NM_001199107.2(TBC1D24):c.1629C>T (p.Phe543=)
NM_001199107.2(TBC1D24):c.162G>A (p.Val54=)
NM_001199107.2(TBC1D24):c.1641C>A (p.Ala547=) rs553215090
NM_001199107.2(TBC1D24):c.1641C>T (p.Ala547=) rs553215090
NM_001199107.2(TBC1D24):c.1644G>A (p.Val548=)
NM_001199107.2(TBC1D24):c.1668T>C (p.Pro556=)
NM_001199107.2(TBC1D24):c.1671C>T (p.Asp557=)
NM_001199107.2(TBC1D24):c.192C>T (p.Cys64=) rs878854271
NM_001199107.2(TBC1D24):c.216C>T (p.Ser72=) rs749814291
NM_001199107.2(TBC1D24):c.264C>T (p.Ser88=) rs2141871200
NM_001199107.2(TBC1D24):c.274C>T (p.Leu92=)
NM_001199107.2(TBC1D24):c.291C>T (p.Asp97=)
NM_001199107.2(TBC1D24):c.303G>A (p.Val101=)
NM_001199107.2(TBC1D24):c.321T>C (p.Asn107=)
NM_001199107.2(TBC1D24):c.327C>T (p.Arg109=) rs754551693
NM_001199107.2(TBC1D24):c.339C>A (p.Ala113=)
NM_001199107.2(TBC1D24):c.348G>A (p.Lys116=)
NM_001199107.2(TBC1D24):c.354C>G (p.Leu118=) rs2141871420
NM_001199107.2(TBC1D24):c.384C>T (p.Ile128=) rs754479878
NM_001199107.2(TBC1D24):c.396C>T (p.Pro132=) rs371937830
NM_001199107.2(TBC1D24):c.39C>T (p.Asp13=)
NM_001199107.2(TBC1D24):c.400C>T (p.Leu134=) rs2065741660
NM_001199107.2(TBC1D24):c.417C>A (p.Ala139=)
NM_001199107.2(TBC1D24):c.418C>T (p.Leu140=)
NM_001199107.2(TBC1D24):c.438C>T (p.Ile146=) rs776944981
NM_001199107.2(TBC1D24):c.456C>T (p.Phe152=) rs2065742840
NM_001199107.2(TBC1D24):c.465C>T (p.Ala155=) rs1596968205
NM_001199107.2(TBC1D24):c.477G>C (p.Leu159=)
NM_001199107.2(TBC1D24):c.489C>T (p.Asp163=)
NM_001199107.2(TBC1D24):c.492C>T (p.Pro164=) rs369172908
NM_001199107.2(TBC1D24):c.507C>T (p.Ile169=) rs529104933
NM_001199107.2(TBC1D24):c.555C>T (p.Asp185=)
NM_001199107.2(TBC1D24):c.57C>A (p.Ile19=)
NM_001199107.2(TBC1D24):c.600C>T (p.Ala200=)
NM_001199107.2(TBC1D24):c.612T>C (p.Asp204=)
NM_001199107.2(TBC1D24):c.624C>T (p.Val208=)
NM_001199107.2(TBC1D24):c.69G>A (p.Gly23=)
NM_001199107.2(TBC1D24):c.702G>A (p.Val234=) rs188739853
NM_001199107.2(TBC1D24):c.702G>C (p.Val234=) rs188739853
NM_001199107.2(TBC1D24):c.717G>A (p.Val239=)
NM_001199107.2(TBC1D24):c.777G>A (p.Pro259=)
NM_001199107.2(TBC1D24):c.777G>T (p.Pro259=)
NM_001199107.2(TBC1D24):c.792C>T (p.Ser264=) rs769290045
NM_001199107.2(TBC1D24):c.804C>T (p.Asp268=)
NM_001199107.2(TBC1D24):c.816C>T (p.Phe272=) rs796053402
NM_001199107.2(TBC1D24):c.831G>A (p.Ala277=)
NM_001199107.2(TBC1D24):c.840G>A (p.Val280=)
NM_001199107.2(TBC1D24):c.846T>C (p.Pro282=)
NM_001199107.2(TBC1D24):c.855G>C (p.Leu285=) rs769201984
NM_001199107.2(TBC1D24):c.867G>A (p.Ala289=) rs1328290571
NM_001199107.2(TBC1D24):c.930C>T (p.Ala310=)
NM_001199107.2(TBC1D24):c.954G>A (p.Val318=)
NM_001199107.2(TBC1D24):c.965+11G>C rs568663296
NM_001199107.2(TBC1D24):c.965+15G>T
NM_001199107.2(TBC1D24):c.965+16C>G rs2065750449
NM_001199107.2(TBC1D24):c.965+16C>T
NM_001199107.2(TBC1D24):c.965+17C>T
NM_001199107.2(TBC1D24):c.965+8G>T rs372247100
NM_001199107.2(TBC1D24):c.966-11C>T
NM_001199107.2(TBC1D24):c.966-12_966-10del rs2065755511
NM_001199107.2(TBC1D24):c.966-5T>C
NM_001199107.2(TBC1D24):c.972A>G (p.Ser324=)
NM_001199107.2(TBC1D24):c.983+15_983+16del rs1064794673
NM_001199107.2(TBC1D24):c.983+19C>G rs2141873600
NM_001199107.2(TBC1D24):c.984-11G>A rs1297656612
NM_001199107.2(TBC1D24):c.984-16T>C
NM_001199107.2(TBC1D24):c.984-5C>T rs535021783
NM_001199107.2(TBC1D24):c.984-7C>T rs1432999070

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